rs7017252

▶

GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Cleft palate, cleft lip

Yu Y et al. “Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.” Nature Communications 8:14364 (2017)

Allele A

OR 1.60

p 8.0e-16

N 6,084

Large GWAS

East Asian

heel bone mineral density

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)

Allele C

OR 0.01

p 4.0e-12

N 426,824

Large GWAS

European

blood phosphate measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele T

OR 0.02

p 4.0e-10

N 325,141

Major Consortium StudyLarge GWAS

multi-ancestry

▶

Research that mentions this SNP (1)

▶

Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians

AssociationN=993Jane C. Figueiredo et al.(2014)· American Journal of Medical Genetics Part A

A targeted genome-wide study examining SNPs in three understudied populations (260 children with orofacial clefts from the DRC, Vietnam, and Philippines) confirmed four cleft susceptibility regions: 1q32.2 (IRF6), 10q25.3 (VAX1), 17q22 (NOG), and 15q13.3. Notable findings include rs10787738 near VAX1 (P=4.98E-03) and rs7987165 on chromosome 13 (P=2.2E-05) in meta-analysis, with risk alleles varying by population and no significant associations found in African populations.

Traits studied:Cleft lip with or without cleft palateNon-syndromic cleft lipNon-syndromic cleft palateOrofacial clefts

PubMed DOI Metascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.